Gaucher disease - Gaucher disease
What is the disease?This is a hereditary disease caused by an abnormality in glucocerebrosidase, which causes glucocerebroside to accumulate in the liver, spleen, bone marrow, and in severe cases, the brain, impairing their functions. What is the cause?It is caused by a genetic defect in glucocerebrosidase and is inherited in an autosomal recessive manner. How symptoms manifestIn severe cases, swelling of the liver and spleen occurs from infancy, convulsions appear, and the disease progresses, leading to early death. In mild cases, no neurological symptoms are observed, and symptoms include swelling of the liver and spleen, bone pain, and fractures. Some patients have an intermediate course of the disease. Testing and diagnosisFoam cells and lymphocyte vacuolation are observed in the bone marrow. The diagnosis is made by measuring enzyme activity in lymphocytes and cultured cells. Treatment methodsThere is no effective treatment for severe cases, but for milder cases, bone marrow transplantation therapy and enzyme replacement therapy are performed. What to do if you notice an illnessAn examination by a doctor specializing in congenital metabolic disorders and pediatric neurology is required. Source: Houken “Sixth Edition Family Medicine Encyclopedia” Information about the Sixth Edition Family Medicine Encyclopedia |
どんな病気かグルコセレブロシダーゼの異常により、グルコセレブロシドが肝臓、脾臓、骨髄、重症型では脳にもたまり、それぞれの機能を障害する遺伝性の病気です。 原因は何かグルコセレブロシダーゼの遺伝子異常が原因で、常染色体劣性遺伝します。 症状の現れ方重症型では、乳児期から肝臓、脾臓が腫脹し、けいれんが現れて進行し、早期に死亡します。軽症型では神経症状は認められず、肝臓、脾臓の腫脹、骨痛、骨折などが認められます。中間の経過をたどる患者さんもいます。 検査と診断骨髄に泡沫細胞およびリンパ球の空胞化が認められます。リンパ球や培養細胞を用いて酵素活性を測定し、診断します。 治療の方法重症型には有効な治療法はなく、軽症型では骨髄移植療法や酵素補充療法が行われます。 病気に気づいたらどうする先天性代謝異常症および小児神経を専門とする医師による診察が必要です。 出典 法研「六訂版 家庭医学大全科」六訂版 家庭医学大全科について 情報 |
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